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Article

Novel presenilin-1 Y159F sequence variant associated with early-onset Alzheimer's disease.

Neuroscience letters - 7 Dec 2012

Kerchner Geoffrey A, Holbrook Karen

Abstract excerpt

BACKGROUND: Mutations in the gene for presenilin-1 cause familial, early-onset Alzheimer's disease. METHODS: We report the case of a 43-year-old woman presenting with progressive cognitive decline and a family history of early-onset dementia. Her workup included cerebrospinal fluid amyloid-beta, tau, and phospho-tau levels, as well as genetic sequencing of genes implicated in familial Alzheimer's disease....

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PMID: 23123781
DOI: 10.1016/j.neulet.2012.10.037

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